Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3037155 | Brain and Development | 2014 | 4 Pages |
Abstract
Gene mutation of tubulin alpha-1A (TUBA1A), a critical component of microtubules of the cytoskeleton, impairs neural migration and causes lissencephaly (LIS). The approximately 45 cases of disease-associated TUBA1A mutations reported to date demonstrate a wide spectrum of phenotypes. Here we describe an 8-year-old girl with lissencephaly, microcephaly, and early-onset epileptic seizures associated with a novel mutation in the TUBA1A gene. The patient developed Hirschsprung disease and the syndrome of inappropriate antidiuretic hormone secretion (SIADH), which had not previously been described in TUBA1A mutation-associated disease. Our case provides new insight into the wide spectrum of disease phenotypes associated with TUBA1A mutation.
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Developmental Neuroscience
Authors
Norikatsu Hikita, Hideji Hattori, Mitsuhiro Kato, Satoru Sakuma, Yoshiki Morotomi, Hiroshi Ishida, Toshiyuki Seto, Katsuji Tanaka, Taro Shimono, Haruo Shintaku, Daisuke Tokuhara,